1. Diagnostics Scientific Committee
IRDiRC Goal: Means to diagnose most rare diseases by 2020

2. Diagnostics Scientific Committee
Working Groups Genome/Phenome Ontologies and RD Prioritization Sequencing Models at least one SC member plus KB and Secretariat on each call

3. RD Prioritization Diagnostics
RDs that are most tractable in the short-term for gene discovery
Build collaborative platform and datasets to facilitate solving more difficult RD

4. Interpretation of genetic variation in RD Genotypes and Phenotypes
Genome-Phenome
Interpretation of genetic variation in RD Genotypes and Phenotypes
Genome-Phenome
Ontologies
Sequencing
Data-sharing

5. Genome-Phenome Interpretation of genetic variation in RD RD-SYMPATHI
RARE DISEASE SYSTEM FOR PATHOGENICITY INFERENCE
Workshop held in Dublin April 2013
Organized by IRDiRC
50 invited participants

6. Genome-Phenome Common ontology Sequencing standards
Freeing of the data for discovery
Platform – integration layer
Interoperability across the databases
Care4Rare Canada – NIH Undx RD Program
DECIPHER
LOVD
RD-Connect
BGI
Centers for Mendelian Genomics

7. Genome-Phenome IRDiRC goals overlaps significantly
with Global Alliance
IRDiRC must be the voice of RD in Global Alliance
Draft proposal
IRDiRC Action: Adopt

8. Ontologies Ontologies IRDiRC Action
List of disease /phenotype / biobank ontologies
Minimal set of phenotype terminoloy that are mapped across ontologies
2000 terms – Boston October 2013
IRDiRC Action
Adopt 2000 terms or something beyond
Infrastructure to support improvements

9. Sequencing NGS Guidelines IRDiRC Action
Review existing guidelines (6-7 exist now)
Participate in Eurogentest meeting Nov 2013
Compare and resolve guidelines
Timeline early 2014
IRDiRC Action
Adopt

10. Sequencing Clinical NGS IRDiRC Action
Push to have covered by healthcare systems
Review countries where this has been successful
NIH/NHGRI Clinical exome meeting Jan 2014
Facilitate clinical lab data-sharing
IRDiRC Action
Need presence at NIH/NHGRI meeting

11. Identify and evaluate potential therapies
Models
Models
Disease Mechanism
Identify and evaluate potential therapies
Therapy

12. Models Facilitate collaboration
Market-place for model systems scientists to be connected to novel genes
Prioritize RD by therapeutic tractability
IRDiRC RD workshops at meetings
Identify RD for therapeutic development
Landscape of which diseases are not covered by therapeutic research